Varaico: Literature-Extracted Genetic Variants

MDM2

1,400 papers

RefSeq Summary

This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene i...

Pfam Domains

SWIBaa 33–108UCSCSWIB/MDM2 domain

Zn_ribbon_RanBPaa 250–279UCSCZn-finger in Ran binding protein and others

zf-C3HC4_3aa 385–436UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

MDM2 proto-oncogene

HGNC Alias Symbols

HDM2; MGC5370

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002392.6

p.C314C

c.942C>T

Surrounding Variants

1 paper

NM_002392.6

p.C314Y

c.941G>A

1 paper

NM_002392.6

p.E316Q

c.946G>C

1 paper

NM_002392.6

p.E316V

c.947A>T

1 paper

NM_002392.6

p.T312S

c.935C>G

1 paper

NM_002392.6

p.T312S

c.934A>T

1 paper

NM_001145339.2

p.N263fs

c.787_788fs

1 paper

NM_002392.6

p.C311R

c.931T>C

1 paper

NM_002392.6

p.C311insFs

c.931_932ins4

1 paper

NM_002392.6

p.C311del1

c.931_932delTGC

2 papers

NM_002392.6

p.P319delFs

c.955delC

2 papers

NM_002392.6

p.P319fs

c.955_956fs

1 paper

NM_002392.6

p.P319A

c.955C>G